P73基因多态性与宫颈癌遗传易感性的关系及Meta分析

目的 探讨抑癌基因P73第2外显子的两个单核苷酸多态性(G4C14-A4T14,G4A)与宫颈癌遗传易感性的关系.方法 采用PCR-CTPP技术结合直接测序法检测皖南地区汉族人群218例宫颈癌患者和220例正常对照者P73基因多态性,分析P73基因多态性与宫颈癌发生的相关性,同时对世界不同群体的相关研究进行Meta分析.结果 在病例组和对照组中P73基因G4C14-A4T14多态位点基因型和等位基因分布差异无统计学意义.PCR-CT-PP技术检测结果与PCR-直接测序法一致.Meta分析结果显示,AT等位基因与亚洲人群宫颈癌发病显著相关(P＜0.05).结论 多个研究结果Meta分析显示P73基因G4C14-A4T14多态性可能与亚洲人群宫颈癌发病相关联,等位基因A4T14患宫颈癌的风险增加.     

MTRR 66A／G多态性与先天性心脏病易感性的Meta分析

目的探讨MTRR 66A／G多态性与先心病易感性之间的关系。方法全面检索相关文献,收集2013年3月前有关MTRR 66A／G多态性与先心病易感性的病例对照研究和核心家系的连锁不平衡检验研究,使用R软件Catmap软件包进行Meta分析。结果最终纳入8项研究,Meta分析的OR值及95％CI为1.35（95％CI=1.14-1.59,P〈0.001,Pheterogeneity=O.073）。敏感性分析显示所得结果稳定,且按研究方法和种族所进行的分层分析中,除连锁不平衡检验研究亚组外,其余所有亚组OR值均达到显著性水平。结论MTRR 66A／G多态性与先心病易感性之间具有显著关联。     

白细胞介素-10-1082G/A基因多态性与结核病易感性关系的Meta分析

目的:研究白细胞介素-10-1082G/A基因位点多态性与结核病易感性的关系。方法:利用PubMed、Medline、EMbase等数据库检索相关文献。采用筛选标准和方法学质量评价,纳入符合要求的文献,并采用Stata12.0软件进行Meta分析,计算合并OR值及其95%CI,最后进行敏感性分析及发表偏倚评估。结果:共26篇文献纳入研究,其中病例组(结核病患者)5 949例,对照组(健康体检者)6 948例。Meta分析结果显示,在各个遗传模型中,IL-10-1082G/A基因多态性与结核病总体发病风险关系不大。对纳入研究以种族为分层因素进行分析,在欧洲人群中GG纯合子基因型者结核病发病率高于AG+AA基因型者(OR=1.69,95%CI=1.19-2.39,P0.05)。对纳入研究以疾病类型为分层因素进行分析,GG纯合子基因型者肺结核与肺外结核发病率高于AA纯合子基因型者(OR=2.00,95%CI=1.16-3.45,P0.05)。经Begg’s与Egger’s检验,纳入的所有研究未见明显发表偏倚。结论:IL-10-1082G/A基因多态性中等位基因G可能与结核病易感性风险增高相关,这种情况可能只存在于欧洲人群及混合结核病中。     

SOD基因多态性与COPD易感性的Meta分析

目的 系统评价SOD中SOD1 +35A/C,SOD2 Val 16 Ala,SOD3 R213G基因多态性与慢性阻塞性肺疾病的相关性。方法 检索CBM、CNKI、万方、VIP、EmBase和PubMed等中英文数据库,收集上述基因多态性与COPD的关系。采用Stata 12.0软件进行统计分析,以病例组和对照组基因型分布比值比及其95%可信区间(95%CI)表示其关联强度。结果 共纳入研究11项,其中病例组5915例,对照组96831例。Meta分析结果显示,SOD1 +35A/C(CA vsAA:OR:1.31;95%CI:0.88~1.95)、SOD2 Val 16 Ala (TC vsTT: OR:1.31;95%CI:0.88~1.95;CC vsTT:OR:0.93;95%CI:0.68~1.28)、SOD3 R213G (CA vsAA:OR,0.98;95%CI:0.63~1.53)基因多态性可能与COPD易感性无关,SOD3 R213G相关研究异质性较大(I2=68.8%),分组分析结果显示异质性主要来自于吸烟人群中。结论 SOD1 +35A/C,SOD2 Val 16 Ala,SOD3 R213G基因多态性可能与COPD易感性无关,但在吸烟人群中SOD3 R213G多态性对COPD的影响需更多大样本的研究进一步证实。     

亚洲人群CTLA-4基因（-318T/C）多态性与宫颈癌易感关系的Meta分析

目的 评估细胞毒性T淋巴细胞抗原基因-318T/C位点多态性与亚洲人群宫颈癌之间的相关性。方法 检索中英文数据库2023年3月前发表有关CTLA-4基因-318T/C位点多态性与亚洲人群宫颈癌之间关系的研究,OR值和95%CI作为评价指标,采用State11.0软件统计分析。结果 共纳入8项病例对照研究,病例组1497例和对照组1872例,Meta分析结果显示：CTLA-4基因-318T/C位点多态性与亚洲人群宫颈癌之间存在明显相关性（T vs C OR=1.59,95%CI:1.37～1.83;TC vs CC OR=1.57,95%CI:1.33～1.86;TT vs CC OR=3.53,95%CI:1.86～6.69;TT vs TC+CC OR=3.13,95%CI:1.65～5.93;TT+TC vs CC OR=1.64,95%CI:1.39～1.93）,根据研究人群来源地区不同进行亚组分析发现CTLA-4基因-318T/C位点多态性与中国人群宫颈癌之间存在明显相关性,与印度和伊朗妇女不存在显著关联。结论 CTLA-4基因-318T/C位点多态性与亚洲人群宫颈癌之间存在明...     

IL-10-592A/C基因多态性与结核病易感性关系的Meta分析

目的:探讨白细胞介素-10(IL-10)基因592A/C位点多态性与结核病易感性的关系。方法:检索PubMed、Medline、EMbase等数据库,搜集相关病例对照研究文献。文献经筛选和方法学质量评价后,采用Stata12.0软件进行Meta分析,计算合并OR值及其95%CI,最后进行敏感性分析及发表偏倚评估。结果:共16篇文献纳入研究,包括结核病患者(病例组)4 115例,健康体检者(对照组)5 441例。Meta分析显示,在各个遗传模型中,IL-10-592A/C基因多态性与结核病总体发病风险关系不大。对纳入研究以世界各洲为分层因素进行分析,在亚洲人群中等位基因A者结核病发病率高于等位基因C者(OR=1.26,95%CI=1.08-1.28,P0.05);纯合子基因型AA者结核病发病率高于纯合子基因型CC者(OR=1.50,95%CI=1.07-2.12,P0.05);纯合子基因型AA者结核病发病率高于AC+CC基因型者(OR=1.33,95%CI=1.10-1.62,P0.05)。经Begg’s与Egger’s检验,纳入的所有研究未见明显发表偏倚。结论:IL-10-592A/C基因多态性中等位基因A可能与亚洲人群结核病易感性风险增高有关。     

PTGER4 基因多态性与炎症性肠病易感性的Meta 分析

目的:系统评价人群中PTGER4 基因多态性与炎症性肠病(Inflammatory bowel disease,IBD)的关系。方法:检索PubMed、Embase、Web of Science 中2016 年2 月29 日以前发表的相关病例对照研究文献,选择符合质量要求的研究。用STATA12.0 软件进行Meta 分析,计算合并OR 值及其95% 可信区间(Confidence interval,CI),并通过敏感性分析判断结果的稳定性,通过Egger忆s 检验分析发表偏倚。结果:共纳入20 篇文献中发表的44 项病例对照研究,包括25 179 例克罗恩病(Crohn‘s disease,CD) 病例、5 261 例溃疡性结肠炎(Ulcerative colitis,UC) 病例和44 652 名对照。Meta 分析结果表明, rs4613763T/ C 多态性与CD 关系的等位基因频率、共显性模型、显性模型、隐性模型分析的合并OR 值(95% CI)分别是1.24(1.06 ~1.45)、1.32(1.06 ~1.64)、1.25(1.06 ~1.48)和1.28(1.03 ~1.59);rs17234657T/ G 多态性与CD 关系四种模型分析合并OR 值(95%CI) 为:1.43(1.34 ~1.52)、2.12(1.70 ~2.63)、1.46(1.36 ~1.57)和1.93(1.56 ~2.40);rs4495224A/ C 多态性与CD 关系的四种模型分析合并OR 值(95% CI) 为:1.05(0.79 ~ 1.41)、1.08(0.62 ~ 1.88)、1.12(0.75 ~ 1.65)和1.00(0.67 ~1.49);rs9292777G/ T 多态性与CD 关系的四种模型分析合并OR 值(95% CI)为:0.77(0.67 ~ 0.88)、0.59(0.51 ~0.69)、0.73(0.61 ~0.87)和0.68(0.59 ~ 0.79);rs1373692T/ G 多态性与CD 关系的四种模型分析合并OR 值(95% CI)为:1.23(0.96 ~1.57)、1.39(0.74 ~2.59)、1.26(0.74 ~2.13)和1.31(1.00 ~1.72)。rs4613763T/ C 多态性与UC 易感性分析的四种模型分析合并OR 值(95%CI)为:1.30(1.17 ~ 1.44)、1.73(1.16 ~ 2.59)、1.32(1.17 ~ 1.48)和1.64(1.10 ~ 2.45)。结论:rs17234657T/ G、rs4613763T/ C 和rs9292777G/ T 多态性与CD 易感性相关;rs4613763T/ C 多态性与UC 的易感性相关。     

ADAM33基因遗传多态性与支气管哮喘易感性关系的Meta分析

目的:综合评价解整合素金属蛋白酶33 (ADAM33)基因Met764Thr和Pro774Ser位点多态性与哮喘易感性的关系.方法:按照统一的检索策略,检索Pubmed、Ovid-Medline、CNKI及维普数据库中有关ADAM33基因多态性与哮喘易感性关系的病例-对照研究,按照纳入和排除标准选择文献提取相关信息,应用Review Manager 5.0软件进行Meta分析.结果:本研究纳入国内外14篇合格文献,其中Met764Thr位点12篇,共3 418例哮喘病例和3 520例对照;Pro774Ser位点8篇,共2 793例哮喘病例和3 207例对照.Meta分析结果显示,携带764位点Met/Thr或Thr/Thr突变基因型患哮喘的危险性是野生型的1.56倍(OR=1.56,95％CI=1.09～2.22),Pro774Ser位点突变基因型也与哮喘危险性升高有关(OR=1.39,95％CI=1.00～ 1.93).将人群分层后,该两个位点多态性与哮喘的关联均仅见于中国人群(764位点:OR=2.73,95％CI=1.79 ～4.17,774位点:OR =2.32,95％CI=1.30 ～4.15).结论:ADAM33基因764和774位点的突变与哮喘的易感性升高有关.     

MMP-9 R279Q基因多态性与冠心病易感性的Meta分析

 目的 探讨MMP-9 R279Q基因多态性与冠心病易感性的关系。方法 检索PubMed,获取2012年1月1日以前发表的MMP-9 R279Q基因多态性与冠心病易感性的病例-对照研究。以冠心病组与对照组人群基因型分布的OR值及95%CI为效应指标,在纯合子比较模型、显性模型和隐性模型中采用固定效应方法进行合并分析, 并进行偏倚评估,应用STATA11.0软件进行统计学处理。结果 共纳入文献5篇,在MMP-9 R279Q多态性位点,基因型比较模型中合并OR值为0.925 (95% CI = 0.847-1.009),纯合子比较模型合并OR值为0.866 (95% CI = 0.713-1.052),显性模型合并OR值为0.909 (95% CI = 0.809-1.020),隐性模型合并OR值为0.902 (95% CI = 0.750-1.086)。结论 MMP-9 R279Q基因多态性可能与冠心病易感性无关。     

P2X7基因多态性与结核病易感性的关联性研究——Meta分析

目前,许多病例对照研究对P2X7基因多态性与结核易感性的关联性进行了探讨,但由于入选病例有限,造成了这些研究结果的不可信。本文应用主题词和关键词“gene”、“P2X7”、“tuberculosis”和“结核”,检索了1998年1月至2009年8月MEDLINE、PUBMED、OVID及CBMdisc数据库发表的有关文献,并辅以文献追溯的方法,手工检索相关的参考文献,试图通过Meta分析,探讨人群P2X7基因2个多态性位点与结核易感性的关系。结果显示,与1513A和-762T等位基因相比,P2胛基因上1513C和一762C多态性等位基因的合并OR值分别为1．43（95％CI为1．21—1．69;P〈0．0001）和0．88（95％CI为0．65—1．20;P=0．43）。研究结果提示,人群P2胛基因1513多态性位点与结核易感性相关,而一762多态性位点与结核易感性不相关。     

FAS-670A/G single nucleotide polymorphism may be associated with human T lymphotropic virus-1 infection and clinical evolution to TSP/HAM

FAS and FASLG genes are closely linked to the apoptosis mechanism of the immune system and several polymorphisms in these genes have been associated with susceptibility to diseases. The present study investigated the polymorphisms at positions −670 in the FAS gene, and −169 and −124 in the FASLG gene, among HTLV-1 infected subjects. Blood samples from HTLV infected subjects and seronegative individuals were collected, and polymorphisms were analyzed using a polymerase chain reaction (PCR) followed by RFLP analysis using restriction endonucleases. The genotype frequencies of the FAS −670 polymorphism was the only one that showed a higher and significant prevalence of genotype −670GG among HTLV-1 infected subjects as compared to the control group (p = 0.0160), but the genotype −670AA was more frequent among TSP/HAM patients as compared to the asymptomatic individuals (p = 0.0005). TCD4⁺ and TCD8⁺ lymphocyte counts from HTLV infected and seronegative subjects, as well as the proviral load values, according to the status of symptomatic and asymptomatic infection carrying different genotypes were compared but showed no statistical significance. The present results suggest that FAS −670 polymorphism seems to be associated with susceptibility to HTLV-1 and may increase the chance to develop TSP/HAM among HTLV-1 infected persons.     

BRCA1基因多态性与宫颈癌发生关系的研究

目的探讨人乳腺癌易感基因1（BRCA1）基因多态性与宫颈癌发生的关系。方法采用病例对照研究,运用多聚酶链式反应—限制性片段长度多态性（PCR-RFLP）法检测71例宫颈癌患者和68例健康人BRCA1 871 C〉T单核苷酸多态性,比较上述各组基因型和等位基因频率分布有无差异。结果 BRCA1 871T/T,C/T,C/T＋T/T基因型相对于C/C基因型显著降低了宫颈癌发生的风险（C/T：OR（95%CI）=0.29（0.13-0.68）,T/T：OR（95%CI）=0.29（0.12-0.69）,C/T＋T/T：OR（95%CI）=0.29（0.14-0.61）;结论 BRCA1基因突变与宫颈癌密切相关,BRCA1 871C〉T降低了宫颈癌发生的风险。     

The POLR2E rs3787016 polymorphism is strongly associated with the risk of female breast and cervical cancer

The rs3787016 polymorphism, in polymerase II polypeptide E (POLR2E), was previously identified as being associated with the risk for prostate cancer, esophageal cancer, breast cancer, papillary thyroid carcinoma and liver cancer, suggesting that rs3787016 may server as a common genetic factor to affect individual susceptibility to cancer. To prove the hypothesis, we here performed a case-control study to explore the association between rs3787016 and cervical cancer risk, and to confirm the association between rs3787016 and breast cancer in a central Chinese population, which was followed by a meta-analysis to precisely estimate the association between rs3787016 and risk of female breast and cervical cancer. The genotyping was performed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and confirmed by sequencing. Our results indicated that rs3787016 was associated with the risk of both breast cancer and cervical cancer, and stratified analysis indicated that the association remained particularly for ≤60 years old females who smoke and drink. Moreover, after grouping breast cancer and cervical cancer together, our meta-analysis demonstrated that rs3787016 was associated with overall cancer risk and breast cancer risk. Collectively, the POLR2E rs3787016 polymorphism may be a valuable biomarker for female breast and cervical cancer predisposition.     

肿瘤坏死因子-α-308G/A与川崎病遗传易感性的荟萃分析

目的 用荟萃(Meta)分析的方法研究肿瘤坏死因子α(TNF-α)基因启动子区多态位点(-308 G/A)与川崎病(KD)遗传易感性的关系.方法 收集Medline和EMBASE数据库中关于TNF-α-308 G/A与KD遗传易感性的相关文献,对其进行Meta分析.结果 经数据库检索,有4篇文献纳入本研究.对等位基因和基因型频率进行分析,结果显示TNF-α-308 G/A等位基因A的频率与川崎病遗传易感性无显著相关( OR =0.836,95％CI =0.347-2.012).基因型频率与川崎病遗传易感性无显著相关(Aavs.GG,OR=0.817,95％ CI=0.292-2.284;Aavs.GA,OR=0.980,95％ CI=0.300-3.206;AA +GA vs.GG,OR=0.840,95％CI =0.356-1.981;AA+GG vs.AA,OR =0.884,95％CI=0.636-1.227).结论 TNF-α-308 G/A位点基因多态性与川崎病遗传易感性无显著相关,仍需扩大研究样本量进行分析.     

Interleukin-1 beta-511 polymorphism and risk of cervical cancer

Cervical cancer is almost invariably associated with infection by human papillomavirus. It is believed that the host genetic factors such as inflammation-induced cytokines may play a role in cervical carcinogenesis. The IL1B gene, encoding IL-1beta cytokine, contains several single nucleotide polymorphisms. One of them which is in the positions -511 (C-T) related with promoter region has been associated with increased IL-1beta production and with increased risk of developing a number of inflammatory diseases and gastric carcinoma. We assessed the association between the IL1B -511 polymorphism and cervical cancer risk in a hospital-based case-control study among 546 Korean women (182 cases; 364 age-matched controls). The allele frequencies of the case subjects (C, 0.42; T, 0.58) were not significantly different from those of control subjects (C, 0.43; T, 0.57). Control subjects were in Hardy-Weinberg equilibrium. The carriers with -511 C/T or T/T genotypes were at higher risk of cervical cancer with odds ratio of 2.42 (95% CI 1.31-4.46, p<0.005). However, there was no difference of cervical cancer risk between C/T heterologous genotypes and T/T homologous genotypes. In conclusion, in Korean population, IL1B -511 C/C genotypes were significantly associated with a decreased risk of cervical cancer.     

An association between asthma and TNF-308G/A polymorphism: meta-analysis

Tumor necrosis factor (TNF) is a potent inflammatory cytokine that contributes to airway inflammation in asthma. Previous studies have reported that a G-to-A transition at position −308 (−308G/A, also referred to as TNF-α-308*1 and 308*2 respectively), is associated with asthma, but other studies have shown conflicting results. To investigate a possible association between the TNF-308G/A polymorphism and asthma, we performed transmission disequilibrium tests and a case–control study (family samples: 495 members in 165 Japanese trio families with one asthmatic child and both parents; case–control samples: 461 Japanese asthmatic children and 465 healthy controls). To increase the sample size and power, we performed a meta-analysis of all available relevant studies, including 2,477 asthmatics and 3,217 controls. We did not find a significant association between the TNF-308G/A polymorphism and childhood atopic asthma in two independent Japanese populations (P>0.05); however, meta-analysis revealed that the TNF-308G/A polymorphism was statistically significantly associated with asthma. The combined odds ratio with a fixed effects model and with a random effects for TNF-308A was 1.46 (95% confidence interval [CI], 1.27–1.68, P=0.0000001) and 1.46 (95% CI, 1.20–1.77, P=0.00014) respectively. Our data further support the importance of the TNF region in the development of asthma.     

PAI-1基因启动子区4G/5G单核苷酸多态性与乳腺癌的相关性研究

目的研究纤溶酶原激活剂抑制物-1(plasminogen activator inhibitor-1,PAI-1)基因启动子区单核苷酸插入/缺失(4G/5G)多态性在温州地区的分布特点及其与乳腺癌之间的关系.方法病例组:53例乳腺癌患者.对照组:在温州汉族人群中随机选取146例女性为对照.应用聚合酶链式反应(PCR)、聚丙烯酰胺凝胶电泳及银染显带技术对上述人群进行PAI-1基因启动子区4G/5G多态性分析.结果 (1)正常女性与正常男性比较4G/4G、4G/5G、5G/5G基因型中,女性5G/5G基因型高于男性(χ2=6.626 P=0.01).(2)疾病和对照组的基因型和基因频率均无显著性差异(P>0.05).结论 (1)PAI-1基因启动子区4G/5G单核苷酸多态性随种族和地区的不同而存在差异.(2)PAI-1基因启动子区单核苷酸插入/缺失(4G/5G)遗传多态性与乳腺癌的发生发展可能没有直接相关性.     

Association between human leukocyte antigen-G 14-bp insertion/deletion polymorphism and cancer risk: A meta-analysis and systematic review

Background

Human leukocyte antigen-G (HLA-G) is involved in the development and progression of human cancers, and numerous molecular epidemiological studies have been conducted to explore the potential relationship of HLA-G 14-bp insertion/deletion (ins/del) polymorphism with cancer risk. However, results from published studies were inconclusive.

Methods

Both PUBMED and EMBASE databases were searched comprehensively to identify eligible studies investigating the association of HLA-G 14-bp ins/del polymorphism with cancer risk. Statistical analysis was performed by using STATA 12.0 and Review Manager 5.0.

Results

Fourteen eligible studies with 2340 cancer patients and 3967 controls were included and analyzed with odds ratio (OR) and its corresponding 95% confidence interval (CI). Overall, no significant association between HLA-G 14-bp ins/del polymorphism and overall cancer risk was detected in all comparison models. Further subgroup analyses based on ethnicity and cancer types demonstrated the significant association among Asians (ins/del vs. del/del: OR = 0.80, 95% CI, 0.66–0.95; ins/ins + ins/del vs. del/del: OR = 0.80, 95% CI, 0.65–0.97) and for breast cancer (ins allele vs. del allele: OR = 0.76, 95% CI, 0.61–0.96; ins/ins vs. del/del: OR = 0.57, 95% CI, 0.37–0.87; and ins/ins vs. ins/del + del/del: OR = 0.60, 95% CI, 0.42–0.87).

Conclusion

This study suggested that HLA-G 14-bp ins/del polymorphism might contribute to breast cancer susceptibility and overall cancer risk among Asians. Further well-designed studies with larger sample size are warranted to validate our conclusion.     

XRCC1基因多态性与乳腺癌遗传易感性的Meta分析

目的综合评估XRCC1（X-Ray Repair Cross Complementing Protein 1,XRCC1）基因单核苷酸多态性与乳腺癌易感性的关系。方法以＂Breast cancer＂、＂Polymorphism＂、＂XRCC1＂、＂Arg399Gln＂、＂Arg194Trp＂、＂Arg280His＂以及＂-77T〉C＂等为主题词检索Pubmed等英文数据库,同时以＂乳腺癌＂及＂基因多态性＂等为主题词检索中文数据库,利用Stata10.0软件进行Meta分析。结果 XRCC1 Arg399Gln显著增加患乳腺癌风险,其纯合遗传模型（Gln/Gln vsArg/Arg）与隐性遗传模型Gln/Gln vs（Gln/Arg＋Arg/Arg）的相对危险度（Odds Ratio,OR）分别为1.12（95%CI=1.02-1.22）及1.12（95%CI=1.03-1.22）。此外,XRCC1-77T〉C亦显著增加了患乳腺癌风险,其纯合遗传模型C/C vs T/T与隐性遗传模型C/C vs（T/C＋T/T）的OR值分别为1.47（95%CI=1.00-2.17）及1.52（95%CI=1.06-2.18）。结论 XRCC1基因Arg399Gln位点Gln/Gln突变型以及-77T〉C位点C/C突变型均与乳腺癌发生相关。     

miR-143/145启动子区rs17723799多态性与宫颈癌易感性的相关性研究

目的:探讨miR-143/145启动子区rs17723799多态性与宫颈癌的关系.方法:选取242例宫颈癌患者及249例健康志愿者作为对照,采用SnaPshot和Sanger测序法对rs17723799进行多态性检测,对临床数据进行分层分析,qRT-PCR检测宫颈癌组织中miR-143/145相对表达.结果:rs172...